Gene Gene information from NCBI Gene database.
Entrez ID 9776
Gene name Autophagy related 13
Gene symbol ATG13
Synonyms (NCBI Gene)
KIAA0652PARATARG8
Chromosome 11
Chromosome location 11p11.2
Summary The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]
miRNA miRNA information provided by mirtarbase database.
544
miRTarBase ID miRNA Experiments Reference
MIRT047462 hsa-miR-10b-5p CLASH 23622248
MIRT494616 hsa-miR-4714-5p PAR-CLIP 23592263
MIRT494614 hsa-miR-4779 PAR-CLIP 23592263
MIRT494615 hsa-miR-301a-5p PAR-CLIP 23592263
MIRT494613 hsa-miR-301b-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IDA 20713597, 23202584, 23392225, 23524951, 25891078, 28890335, 33637724
GO:0000045 Process Autophagosome assembly IDA 19225151
GO:0000045 Process Autophagosome assembly IEA
GO:0000045 Process Autophagosome assembly IMP 19211835, 30778222
GO:0000045 Process Autophagosome assembly IMP 19211835
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615088 29091 ENSG00000175224
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75143
Protein name Autophagy-related protein 13
Protein function Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB
PDB 3WAN , 3WAO , 3WAP , 5C50 , 5XUY , 5XV1 , 5XV3 , 5XV4 , 5XV6 , 6HYN , 8DO8 , 8SOI , 8SQZ , 8SRM , 9C82
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10033 ATG13 75 195 Autophagy-related protein 13 Family
Sequence
METDLNSQDRKDLDKFIKFFALKTVQVIVQARLGEKICTRSSSSPTGSDWFNLAIKDIPE
VTHEAKKALAGQLPAVGRSMCVEISLKTSEGDSMELEIWCLEMNEKCDKEIKVSYTVYNR
LSLLLKSLLAITRVTPAYRLSRKQGHEYVILYRIYFGEVQLSGLGEGFQTVRVGTVGTPV
GTITLSCAYRINLAF
MSTRQFERTPPIMGIIIDHFVDRPYPSSSPMHPCNYRTAGEDTGV
IYPSVEDSQEVCTTSFSTSPPSQLSSSRLSYQPAALGVGSADLAYPVVFAAGLNATHPHQ
LMVPGKEGGVPLAPNQPVHGTQADQERLATCTPSDRTHCAATPSSSEDTETVSNSSEGRA
SPHDVLETIFVRKVGAFVNKPINQVTLTSLDIPFAMFAPKNLELEDTDPMVNPPDSPETE
SPLQGSLHSDGSSGGSSGNTHDDFVMIDFKPAFSKDDILPMDLGTFYREFQNPPQLSSLS
IDIGAQSMAEDLDSLPEKLAVHEKNVREFDAFVETLQ
Sequence length 517
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Autophagy - other
Autophagy - animal
Longevity regulating pathway
Alzheimer disease
Amyotrophic lateral sclerosis
Huntington disease
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
  Macroautophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriosclerosis Arteriosclerosis BEFREE 28607460
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28607460
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia Pubtator 36969237 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 35327947 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Cerebral Infarction BEFREE 30365078
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 35572821 Associate
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 33815277 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Failure, Acute Kidney Failure BEFREE 30365078
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29484365
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma Pubtator 37700273 Associate
★☆☆☆☆
Found in Text Mining only